HGVS | Genome Assembly |
---|---|
NC_000006.12:g.35805887C>A , CM000668.2:g.35805887C>A | GRCh38 |
NC_000006.11:g.35773664C>A , CM000668.1:g.35773664C>A | GRCh37 |
NC_000006.10:g.35881642C>A | NCBI36 |
NG_012184.1:g.5594C>A | |
NG_012184.2:g.5594C>A | |
NG_012184.3:g.13682C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000360215.3:c.217C>A MANE Select | ENSP00000353346.1:p.Leu73Met | |
ENST00000651132.1:c.217C>A | ENSP00000498322.1:p.Leu73Met | |
ENST00000651676.1:c.217C>A | ENSP00000498699.1:p.Leu73Met | |
ENST00000651994.1:c.217C>A | ENSP00000498310.1:p.Leu73Met | |
ENST00000652718.1:c.49C>A | ENSP00000498866.1:p.Leu17Met | |
ENST00000360215.2:c.217C>A | ENSP00000353346.1:p.Leu73Met | |
NM_182548.3:c.217C>A | NP_872354.1:p.Leu73Met | |
XM_011514403.1:c.217C>A | XP_011512705.1:p.Leu73Met | |
NM_182548.4:c.217C>A MANE Select | NP_872354.1:p.Leu73Met |